AutismKB 2.0

Annotation Detail for CACNA1I


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Basic Information Top
Gene Symbol:CACNA1I ( Cav3.3,KIAA1120 )
Gene Full Name: calcium channel, voltage-dependent, T type, alpha 1I subunit
Band: 22q13.1
Quick LinksEntrez ID:8911; OMIM: 608230; Uniprot ID:CAC1I_HUMAN; ENSEMBL ID: ENSG00000100346; HGNC ID: 1396
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04010MAPK signaling pathway
hsa04020Calcium signaling pathway
Pathway IDPathway Name
Axon guidance
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CACNA1I mRNAaffects expression 16483693
D001464 Barium CACNA1I mRNA alternative form results in increased transport of Bariumincreases transport 11179973
D002118 Calcium CACNA1I protein results in increased transport of Calciumincreases transport 11073957
D004737 Enflurane CACNA1I protein affects the susceptibility to Enfluraneaffects response to substance 15644869
D005045 Etomidate CACNA1I protein affects the susceptibility to Etomidateaffects response to substance 15644869
D005576 Forskolin Mibefradil inhibits the reaction [[Forskolin co-treated with 1-Methyl-3-isobutylxanthine] results in increased activity of CACNA1I protein]affects cotreatment|decreases reaction|increases activity 17110049
D005576 Forskolin Nickel inhibits the reaction [[Forskolin co-treated with 1-Methyl-3-isobutylxanthine] results in increased activity of CACNA1I protein]affects cotreatment|decreases reaction|increases activity 17110049
C051890 irinotecan irinotecan analog results in decreased expression of CACNA1I mRNAdecreases expression 18927307
D015056 1-Methyl-3-isobutylxanthine Mibefradil inhibits the reaction [[Forskolin co-treated with 1-Methyl-3-isobutylxanthine] results in increased activity of CACNA1I protein]affects cotreatment|decreases reaction|increases activity 17110049
D015056 1-Methyl-3-isobutylxanthine Nickel inhibits the reaction [[Forskolin co-treated with 1-Methyl-3-isobutylxanthine] results in increased activity of CACNA1I protein]affects cotreatment|decreases reaction|increases activity 17110049
D007530 Isoflurane CACNA1I protein affects the susceptibility to Isofluraneaffects response to substance 15644869
D020748 Mibefradil Mibefradil inhibits the reaction [[Forskolin co-treated with 1-Methyl-3-isobutylxanthine] results in increased activity of CACNA1I protein]affects cotreatment|decreases reaction|increases activity 17110049
D009532 Nickel Nickel inhibits the reaction [[Forskolin co-treated with 1-Methyl-3-isobutylxanthine] results in increased activity of CACNA1I protein]affects cotreatment|decreases reaction|increases activity 17110049
D010424 Pentobarbital CACNA1I protein affects the susceptibility to Pentobarbitalaffects response to substance 15644869
D010634 Phenobarbital CACNA1I protein affects the susceptibility to Phenobarbitalaffects response to substance 15644869
D015742 Propofol CACNA1I protein affects the susceptibility to Propofolaffects response to substance 15644869
D013874 Thiopental CACNA1I protein affects the susceptibility to Thiopentalaffects response to substance 15644869
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.496195326
MESH:D000138 Acidosis Ammonium Chloride 3.6118287403
MESH:D055371 Acute Lung Injury Nickel 4.6116166738
MESH:D018248 Adenoma, Liver Cell Phenobarbital 4.0217620307
MESH:D001008 Anxiety Disorders Pentobarbital 4.7511141031 18313124
MESH:D001943 Breast Neoplasms Nickel 3.2815986119
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 1.9220007298 17173139 1701930 6705139 20935162
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.294080065
MESH:D003110 Colonic Neoplasms irinotecan 2.6017725105 17287894
MESH:D015179 Colorectal Neoplasms irinotecan 2.3617159606 17454858 16391804 18509181 15273666 16303861 18259882
MESH:D017449 Dermatitis, Allergic Contact Nickel 3.9917244072 17100760 19470301
MESH:D003877 Dermatitis, Contact Nickel 4.672952479
MESH:D004421 Dystonia Phenobarbital 4.041851702
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.153659116
MESH:D004828 Epilepsies, Partial Phenobarbital 3.933922381 11558140
MESH:D004827 Epilepsy Phenobarbital 2.9020417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.576401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.297750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.073659116
MESH:D006529 Hepatomegaly Phenobarbital 3.5316109766
MESH:D015658 HIV Infections Nickel 3.8317263646
MESH:D007022 Hypotension Isoflurane 4.9712967683
MESH:D007077 Ileal Diseases 1-Methyl-3-isobutylxanthine 5.5118306037
MESH:D007249 Inflammation Nickel 3.4416166738
MESH:D007579 Jejunal Diseases 1-Methyl-3-isobutylxanthine 5.5118306037
MESH:D007683 Kidney Tubular Necrosis, Acute Calcium 5.1116316344
MESH:D008103 Liver Cirrhosis Phenobarbital 2.9121047994
MESH:D008107 Liver Diseases Phenobarbital 2.1819363144
MESH:D008113 Liver Neoplasms Phenobarbital 2.3221047994 19073162 19482888 15975961 8742319 19812893
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 2.721399818 6150874 18308698 2563599 17172636
MESH:D052016 Mucositis irinotecan 5.0617159606
MESH:D009175 Mycoplasma Infections Thiopental 6.6910773494
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.5317484760
MESH:D009362 Neoplasm Metastasis irinotecan 3.1818259882
MESH:D009447 Neuroblastoma irinotecan 3.498761367
MESH:D017599 Neuroectodermal Tumors irinotecan 4.788761367
MESH:D010018 Osteomalacia Phenobarbital 4.4117016548
MESH:D010024 Osteoporosis Calcium 3.8017882678
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5016965848
MESH:D010538 Peritonitis Isoflurane 5.2617414419
MESH:D011230 Precancerous Conditions Phenobarbital 3.652563599
MESH:D019310 Pseudolymphoma Phenobarbital 4.5612752131
MESH:D012021 Reflex, Abnormal Pentobarbital 6.0710930210
MESH:D012640 Seizures Pentobarbital 6.499754883 10087439
MESH:D012640 Seizures Phenobarbital 6.493137016 4039156 16876388 11442880
MESH:D003294 Seizures, Febrile Phenobarbital 4.876407741
MESH:D018805 Sepsis Isoflurane 5.0117414419
MESH:D013274 Stomach Neoplasms irinotecan 2.3615723263
MESH:D013375 Substance Withdrawal Syndrome Pentobarbital 5.0011529278 9754883
MESH:D013742 Tetanus Propofol 6.492903605
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.071399818
Pathway ID Pathway Name
REACT:18266 Axon guidance
KEGG:04020 Calcium signaling pathway
KEGG:04010 MAPK signaling pathway
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00568 antagonist Cinnarizine Calcium Channel Blockers;Anti-Allergic Agents;Histamine H1 Antagonists
DB00617 suppressor Paramethadione Anticonvulsants
DB00661 blocker Tarka Vasodilator Agents;Antiarrhythmic Agents;Calcium Channel Blockers;Anti-Arrhythmia Agents
DB00909 antagonist Zonisamide Antioxidants;Anticonvulsants
DB01388 antagonist Mibefradil Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
DB04841 antagonist Flunarizine Anticonvulsants;Vasodilator Agents;Calcium Channel Blockers;Histamine H1 Antagonists
No data
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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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